Screening Results in Patients with Tuberous Sclerosis Complex

We sought to examine the frequency of abnormal echocardiographic findings in patients with tuberous sclerosis complex. In a retrospective cohort study, we included all patients with known tuberous scle-rosis complex who had been sent to our cardiology department for echocardiographic screening from 1995 through August 2003 (n=56). Two research scientists independently reviewed the reports of the echocardiographic screening examinations for abnormal find-ings. We used descriptive statistics, the Mann-Whitney U test, and the c2 test. The mean age of patients included in the study was 35 years (range, 12–73 yr); 23 pa-tients were male. Abnormal findings were seen in 22 patients (39%). The most common abnormal findings were focal areas of increased intramyocardial echogenicity, which were seen in 16 patients (29%). The clinical consequence of this finding is still unknown. We conclude that echocardiographic abnormalities are common in patients with tuber-ous sclerosis complex. (Tex Heart Inst J 2010;37(3):280-3) T uberous sclerosis complex (TSC) is an inheritable multiorgan disease. It is an autosomal dominant neurocutaneous disorder characterized by tumor-like malformations that involve many organ systems, including the brain, heart, kidneys, and skin.1 The birth incidence of TSC is approximately 1 per 5,000 to 10,00